S104R (p.Ser104Arg) variant of GATA5 (Transcription factor GATA-5)
S104R (p.Ser104Arg) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S104R (p.Ser104Arg) variant details
- p.Ser104Arg
- Ensembl rs933702892
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.35
- MetaLR 0.86
- MetaSVM 0.26
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available